XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study.

IF 2.7 4区 医学 Q2 MEDICAL LABORATORY TECHNOLOGY
British Journal of Biomedical Science Pub Date : 2021-07-01 Epub Date: 2021-02-05 DOI:10.1080/09674845.2020.1870308
L Yuan, W M Hu, K Chen, Q Shi, A Lin, H T Chen, Z J Zhuo, L Zeng
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引用次数: 3

Abstract

Background: Glioma, the most common tumour in children next to leukaemia, is difficult to treat, with a poor prognosis and high recurrence rate. Xeroderma pigmentosum group G (XPG) plays a key role in the nucleotide excision repair pathway, which may modulate individual susceptibility to developing cancer. We hypothesized links between XPG variants and glioma in children.Methods: We tested our hypothesis in a study comparing 171 glioma cases with 228 age and sex matched controls, determining XPG polymorphisms rs2094258 C > T, rs751402 C > T, rs2296147 T > C, rs1047768 T > C, rs873601 G > A by standard molecular genetic methods.Results: rs2094258 C > T was associated with a decreased glioma risk, but carrying the rs1047768 C or rs873601 A allele brought an increased risk. Subjects carrying 5 risk genotypes had a significantly increased glioma risk at an adjusted odds ratio of 1.97 (95% confidence Interval 1.26-3.08)(p = 0.003) when compared with those carrying 0-4 risk genotypes. Furthermore, children with 5 risk genotypes had a higher glioma risk when aged >60 months, were more likely to be male, and with subtypes of astrocytic tumours, and low-grade clinical stage, when compared to those with 0-4 risk genotypes. Preliminary functional exploration suggested that rs2094258 is linked with the expression of its surrounding genes in the expression quantitative trait locus analysis.Conclusion: Certain variants of XPG are risk factors for paediatric glioma, and so may be useful in early diagnosis.

XPG基因多态性与胶质瘤易感性:一项双中心病例对照研究。
背景:胶质瘤是儿童中仅次于白血病的最常见肿瘤,治疗困难,预后差,复发率高。着色性干皮病G组(XPG)在核苷酸切除修复通路中起关键作用,这可能调节个体对癌症发展的易感性。我们假设XPG变异与儿童胶质瘤之间存在联系。方法:通过对171例胶质瘤患者与228例年龄和性别匹配的对照组进行比较,通过标准分子遗传学方法确定XPG多态性rs2094258 C > T、rs751402 C > T、rs2296147 T > C、rs1047768 T > C、rs873601 G > a,验证了我们的假设。结果:rs2094258 C > T与神经胶质瘤风险降低相关,而携带rs1047768 C或rs873601 a等位基因会增加风险。携带5种风险基因型的受试者与携带0-4种风险基因型的受试者相比,胶质瘤风险显著增加,校正优势比为1.97(95%可信区间1.26-3.08)(p = 0.003)。此外,与0-4个风险基因型的儿童相比,5个风险基因型的儿童在年龄>60个月时患胶质瘤的风险更高,男性的可能性更大,并且伴有星形细胞肿瘤亚型,临床分期较低。初步功能探索表明,在表达数量性状位点分析中,rs2094258与其周围基因的表达有关。结论:XPG的某些变异是小儿胶质瘤的危险因素,因此可能有助于早期诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
British Journal of Biomedical Science
British Journal of Biomedical Science 医学-医学实验技术
CiteScore
4.40
自引率
15.80%
发文量
29
审稿时长
>12 weeks
期刊介绍: The British Journal of Biomedical Science is committed to publishing high quality original research that represents a clear advance in the practice of biomedical science, and reviews that summarise recent advances in the field of biomedical science. The overall aim of the Journal is to provide a platform for the dissemination of new and innovative information on the diagnosis and management of disease that is valuable to the practicing laboratory scientist.
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